RFX5 Gene Bare lymphocyte syndrome, type 2, complementation group C NGS Genetic Test
Short Name: RFX5 Gene BLS Type 2C NGS Test
Also known as: Bare Lymphocyte Syndrome Type 2C, RFX5-related BLS, MHC Class II Deficiency Type C
RFX5 Gene Bare lymphocyte syndrome, type 2, complementation group C NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the RFX5 gene that cause Bare Lymphocyte Syndrome Type 2 Complementation Group C, enabling accurate diagnosis, genetic counseling, and informed management decisions.
- Test Code
- 2667
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree.
Method: Venipuncture or finger-prick
Laboratory Analysis
Blood sample collected via venipuncture or finger-prick onto FTA card.
Report Delivery
Apply pressure to the puncture site. Store sample as instructed.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the RFX5 gene that cause Bare Lymphocyte Syndrome Type 2 Complementation Group C, enabling accurate diagnosis, genetic counseling, and informed management decisions.
How to Prepare
- Use sterile equipment
- Label sample correctly
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for RFX5 mutations is crucial for early intervention in families with a history of immunodeficiency."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Incorrect labeling
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of BLS Type 2C. Genetic counseling recommended.
No pathogenic variant detected
BLS Type 2C unlikely, but clinical correlation needed.
If symptoms of immunodeficiency are present or if family history suggests BLS.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Not a screening test for general population
Risks & Considerations
- ●Minimal risk from blood draw
- ●Possible bruising or infection at puncture site
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample type
Compare With Similar Tests
| Test | RFX5 Gene Bare lymphocyte syndrome, type 2, complementation group C NGS Genetic Test | HLA Typing | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | RFX5 Gene Bare lymphocyte syndrome, type 2, complementation group C NGS Genetic Test | Used for transplant compatibility, not specific for BLS. | Broader genetic analysis, but more expensive and time-consuming. |
Frequently Asked Questions
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